(Ebook) Batten Disease Diagnosis Treatment Research 1st Edition by Krystyna E Wisniewski, Nanbert Zhong, Jeffrey C Hall, Jay C Dunlap, Theodore Friedmann, Francesco ISBN 008049031X 9780080490311

(Ebook) Batten Disease Diagnosis Treatment Research 1st Edition by Krystyna E Wisniewski, Nanbert Zhong, Jeffrey C Hall, Jay C Dunlap, Theodore Friedmann, Francesco ISBN 008049031X 9780080490311

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ISBN 10: 008049031X 
ISBN 13: 9780080490311
Author: Krystyna E Wisniewski, Nanbert Zhong, Jeffrey C Hall, Jay C Dunlap, Theodore Friedmann, Francesco

This title will present all current knowledge of Batten disease from research to clinical evaluation. NCL is not well recognized in underdeveloped countries because the diagnostic technology is lacking. With the information in this volume, however, a specific diagnosis of NCL could be made. Also, specific familial mutations obtained through genetic tests may guide prenatal diagnoses for at-risk families.

(Ebook) Batten Disease Diagnosis Treatment Research 1st Table of contents:

Chapter 1. Neuronal Ceroid Lipofuscinoses: Classification and Diagnosis
I. Introduction
II. Current Classification of NCLs
III. CLN1. Diagnostic Criteria and Phenotype–Genotype Correlation
IV. CLN2. Classic Late-Infantile NCL
V. CLN3. Juvenile NCL
VI. CLN4. Adult NCL
VII. CLN5. Finnish Late-Infantile Variant
VIII. CLN6. Variant Late-Infantile Gypsy/Indian
IX. CLN7. Turkish Variant Late-Infantile NCL
X. CLN8. Northern Epilepsy
XI. Summary
References
Chapter 2. Cellular Pathology and Pathogenic Aspects of Neuronal Ceroid Lipofuscinoses
I. Introduction
II. CLN1. Infantile Form of NCL: Deficiency of Palmitoyl-Protein Thioesterase 1
III. CLN2. The Classic Late-Infantile NCL: Deficiency of Tripeptidyl-Peptidase I
IV. CLN3. Juvenile Form of NCL: Genetic Defect of Lysosomal Membrane Protein
V. Other NCL Forms with Known Genetic Defect
VI. NCL Forms Without Identified Genetic Defects
Chapter 3. Positional Candidate Gene Cloning of CLN1
I. Introduction
II. Linkage Disequilibrium Mapping of the CLN1 Locus in the Finnish Population
III. Palmitoyl-Protein Thioesterase Defines a New Pathway in Lysosomal Catabolism
IV. Enzymology of PPT
V. Posttranslational Processing and Lysosomal Targeting of PPT
VI. The Physiological Role of PPT
VII. Palmitoyl-Protein Thioesterase-2 (PPT2)
VIII. The PPT cDNA and Gene
IX. The Molecular Genetics of CLN1/PPT Deficiency
X. Laboratory Diagnosis of PPT Deficiency
XI. Prospects for Cause-Specific Treatment of PPT Deficiency
References
Chapter 4. Biochemistry of Neuronal Ceroid Lipofuscinoses
I. Introduction
II. Genetic Defects
III. NCL are Lysosomal Storage Diseases
IV. Remaining Issues and Future Directions
References
Chapter 5. Positional Cloning of the JNCL Gene, CLN3
I. Introduction
II. CLN3 Maps to Chromosome 16
III. A Subunit 9 Gene Is Not CLN3
IV. Refined Localization of CLN3
V. Physical Mapping of the CLN3 Candidate Region
VI. Exon Trapping Yields a Candidate cDNA
VII. The Common Mutation in JNCL is a 1-kb Genomic Deletion
VIII. Mutational Analysis of the CLN3 Gene
IX. Tissue Expression of CLN3
X. CLN3 Encodes a Novel Protein
XI. Animal Models of JNCL
References
Chapter 6. Studies of Homogenous Populations: CLN5 and CLN8
I. Introduction
II. Clinical Data
III. Neurophysiology
IV. Neuroradiology
V. Morphology, Cytochemistry, and Biochemistry
VI. Molecular Genetics and Cell Biology
VII. Diagnosis
VIII. Treatment
IX. Mouse Homolog for CLN8
References
Chapter 7. Molecular Genetic Testing for Neuronal Ceroid Lipofuscinoses
I. Introduction
II. Specimens Required for Genetic Testing
III. Molecular Genetic Testing for JNCL
IV. Molecular Genetic Testing for LINCL and INCL
V. Molecular Screening of Carrier Status in NCL Families
VI. Prenatal Diagnostic Testing for NCL
VII. Important Issues in the Molecular Genetic Testing
References
Chapter 8. Genetic Counseling in the Neuronal Ceroid Lipofuscinoses
I. Introduction
II. Inheritance
III. Genetics
IV. Diagnostic Confirmation
V. Genetic Counseling
VI. Carrier Screening
VII. Reproductive Options
VIII. Conclusion
References
Chapter 9. Neurotrophic Factors as Potential Therapeutic Agents in Neuronal Ceroid Lipofuscinosis
I. Introduction
II. Mouse Models of NCLs
III. Characterization of the CNS of Mouse Models of NCLs
IV. Neurotrophic Factors as Potential Therapeutic Agents in Neurodegenerative Disorders?„The Neuro
V. NTF Expression and Actions beyond the Neurotrophic Factor HypothesisŽ
VI. Failure of NTF Signaling„A Cause of Neuronal Dysfunction and Degeneration?
VII. Treatment with IGF-1„Implications for the Treatment of NCLs
VIII. Toward Clinical Trials of NTFs
References
Chapter 10. Animal Models for the Ceroid Lipofuscinoses
I. The Need for Animal Models
II. The Human Disorders
III. Naturally Occurring Ceroid Lipofuscinosis in Animals as Models for the Human Disorders
IV. Animal Models Created through Molecular Genetic Manipulation
V. Future Directions
References
Chapter 11. Experimental Models of NCL: The Yeast Model
I. Introduction
II. Yeast as a Model for JNCL
III. What Does Btn1p Do?
IV. Yeast as a Therapeutic Model for JNCL
V. A Yeast Model for INCL
References
Chapter 12. Outlook for Future Treatment
I. Molecular Cloning for CLN4, CLN6, and CLN7
II. Characterization of Native Substrates for CLN-Encoded Lysosomal Enzymes
III. Proteomic Studies of CLN-Encoded Proteins
IV. Uncovering the Pathogenesis of the NCLs
V. Potential Drugs in Experimental Models May Eventually Lead to Clinical Trials in NCL-Affected Pat
VI. Gene Therapy
References
Appendix: Batten Support Groups
United States of America
Canadian Chapter
European Support Groups

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Tags: Krystyna E Wisniewski, Nanbert Zhong, Jeffrey C Hall, Jay C Dunlap, Theodore Friedmann, Francesco, Disease, Batten